Wilson's disease: a great masquerader

Eur Neurol. 2007;57(2):80-5. doi: 10.1159/000098056. Epub 2006 Dec 15.

Abstract

Background: Wilson's disease (WD) is a treatable autosomal recessive metabolic disorder which could lead to protean hepatic or neurologic manifestations. WD could mimic many neurologic disorders and is often diagnosed with a long delay. This study describes central nervous system manifestations of a group of Iranian patients with neurologic WD.

Methods: Data from case records of patients with neurologic WD presenting at a referral university hospital and a private clinic in Tehran from 1984 to 2004 were analyzed.

Results: Fifty patients from 44 unrelated families with WD were identified, whose mean duration of follow-up was 51.8 (+/-58.5) months. The median age of onset of neurologic symptoms in 37 patients with primary neurologic or simultaneous hepatic-neurologic presentation was 16 (10-38) years, whereas in 13 patients with prior hepatic damage, this was 18.5 (11-34) years. The 6 most common manifestations were dysarthria (80%), drooling (48%), tremor in limbs (44%), abnormal gait (44%), psychiatric and/or sleep symptoms (44%), and dystonia in limbs (42%).

Conclusion: Neurologic WD has heterogeneous manifestations and should be considered in young patients presenting with dysarthria, drooling, any kind of movement disorders or psychiatric symptoms.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Diagnosis, Differential
  • Dysarthria / etiology
  • Dystonia / etiology
  • Female
  • Gait Disorders, Neurologic / etiology
  • Hepatolenticular Degeneration / complications*
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / physiopathology*
  • Humans
  • Male
  • Mental Disorders / etiology
  • Nervous System Diseases / etiology*
  • Sialorrhea / etiology
  • Tremor / etiology